Biochemical Genetics (Inborn Errors of Metabolism) Amino Acid Disorders Aminoacidopathies are inborn errors of amino acid metabolism that produces a metabolic block resulting in accumulation of one or more amino acids in the blood (aminoacidemia) or excess excretion in the urine (aminoaciduria) or both. Organic acidurias Organic acidurias (Organic acid disorders, OADs) are an important class of inherited metabolic disorders (IMD) arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. It leads to accumulation of organic acids in tissues and their subsequent excretion in urine . It is now known that along with amino acidurias, organic acidurias form the most important class of IMD in high-risk population and among severely-ill children. Peroxisomal Disorders (for fatty acid disorders) Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases that share dysfunction of peroxisomes. Peroxisomes are cellular organelles that are an integral part of the metabolic pathway. They participate in important peroxisome-specific metabolic pathways, such as beta-oxidation of very-long-chain fatty acids (VLCFA) and detoxification of hydrogen peroxide. Peroxisomes are also involved in the production of cholesterol, bile acids, and plasmalogens, which contribute to a big part of the phospholipid content of the brain white matter. Lysosomal Storage Disorders Lysosomal disorders are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. As a group, the incidence of LSDs is about 1:5,000 - 1:10,000. Most of the LSDs are autosomal recessive disorders; the two exceptions, Fabry and MPS II, are X-linked recessive. Urea Cycle Disorders Neurotransmitter Disorders
Posted on: Thu, 25 Jul 2013 08:56:18 +0000
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